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Nomenclature, genes, and protein products of limb-girdle muscular dystrophies

Nomenclature, genes, and protein products of limb-girdle muscular dystrophies
New nomenclature Old nomenclature Gene Protein product
Autosomal dominant
LGMD D1 LGMD1D DNAJB6 DnaJ heat shock protein family (Hsp40) member B6
LGMD D2 LGMD1F TNPO3 Transportin 3
LGMD D3 LGMD1G HNRNPDL Heterogeneous nuclear ribonucleoprotein D like protein
LGMD D4 LGMD1I CAPN3 Calpain 3
LGMD D5   COL6A1 Collagen type VI alpha 1 chain
Autosomal recessive
LGMD R1 LGMD2A CAPN3 Calpain 3
LGMD R2 LGMD2B DYSF Dysferlin
LGMD R3 LGMD2D SGCA Sarcoglycan alpha
LGMD R4 LGMD2E SGCB Sarcoglycan beta
LGMD R5 LGMD2C SGCG Sarcoglycan gamma
LGMD R6 LGMD2F SGCD Sarcoglycan delta
LGMD R7 LGMD2G TCAP Telethonin
LGMD R8 LGMD2H TRIM32 Tripartite motif-containing 32
LGMD R9 LGMD2I FKRP Fukutin-related protein
LGMD R10 LGMD2J TTN Titin
LGMD R11 LGMD2K POMT1 Protein O-mannosyltransferase 1
LGMD R12 LGMD2L ANO5 Anoctamin 5
LGMD R13 LGMD2M FCMD Fukutin
LGMD R14 LGMD2N POMT2 Protein O-mannosyltransferase 2
LGMD R15 LGMD2O POMGNT1 Protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2–)
LGMD R16 LGMD2P DAG1 Dystroglycan 1
LGMD R17 LGMD2Q PLEC1 Plectin
LGMD R18 LGMD2S TRAPPC11 Trafficking protein particle complex 11
LGMD R19 LGMD2T GMPPB GDP-mannose pyrophosphorylase B
LGMD R20 LGMD2U CRPPA CDP-L-ribitol pyrophosphorylase A
LGMD R21 LGMD2Z POGLUT1 Protein O-glucosyltransferase 1
LGMD R22   COL6A1/2/3 Collagen VI subunits A1, A2, or A3
LGMD R23   LAMA2 Laminin subunit alpha 2
LGMD R24   POMGNT2 Protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4–)
Blank entries indicate diseases that were not classified as LGMDs under the old nomenclature.
LGMD: limb-girdle muscular dystrophy.
From: Wicklund MP. The Limb-Girdle Muscular Dystrophies. Continuum (Minneap Minn) 2019; 25:1599. DOI: 10.1212/CON.0000000000000809. Copyright © American Academy of Neurology. Reproduced with permission from Wolters Kluwer Health. Unauthorized reproduction of this material is prohibited.
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